Detalhe da pesquisa
1.
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
Hum Mol Genet
; 30(6): 430-442, 2021 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33607653
2.
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Mol Genet Genomic Med
; 8(11): e1481, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32889787
3.
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.
Nat Neurosci
; 22(8): 1235-1247, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235931